{
    "disease_id": "DOID:0081345",
    "recommended_name": {
        "id": "DOID:0081345",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081345",
        "name": "congenital myopathy 10B",
        "description": "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features."
    },
    "synonyms": [
        {
            "id": "MONDO:0859515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859515",
            "name": "congenital myopathy 10b, mild variant",
            "description": ""
        },
        {
            "id": "MIM:620249",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620249",
            "name": "Congenital myopathy 10B, mild variant",
            "description": "Congenital myopathy 10B, mild variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081345"
    ],
    "unlinked_id_list": []
}